AutismKB 2.0

Annotation Detail for YWHAB


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Basic Information Top
Gene Symbol:YWHAB ( GW128,HS1,KCIP-1,YWHAA )
Gene Full Name: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide
Band: 20q13.12
Quick LinksEntrez ID:7529; OMIM: 601289; Uniprot ID:1433B_HUMAN; ENSEMBL ID: ENSG00000166913; HGNC ID: 12849
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body7 / 7076198
blastocyst12 / 62319192
fetus95 / 564012168
neonate5 / 31097160
infant3 / 23620127
juvenile13 / 55556233
adult448 / 1939121231
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma7 / 17475400
breast (mammary gland) tumor35 / 94178371
cervical tumor13 / 34366378
chondrosarcoma29 / 82823350
colorectal tumor37 / 114246323
esophageal tumor1 / 1729057
gastrointestinal tumor39 / 119369326
germ cell tumor56 / 263845212
glioma22 / 106883205
head and neck tumor23 / 136302168
kidney tumor18 / 68959261
leukemia19 / 95842198
liver tumor18 / 96359186
lung tumor33 / 103127319
lymphoma15 / 71755209
non-neoplasia14 / 97250143
normal675 / 3360307200
ovarian tumor21 / 76682273
pancreatic tumor22 / 104616210
primitive neuroectodermal tumor of the CNS13 / 125680103
prostate cancer24 / 102680233
retinoblastoma6 / 46356129
skin tumor54 / 124949432
soft tissue/muscle tissue tumor20 / 125191159
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland5 / 33197150
ascites14 / 40015349
bladder12 / 29757403
blood19 / 123478153
bone27 / 71655376
bone marrow17 / 48801348
brain367 / 1100989333
cervix13 / 48171269
connective tissue26 / 149255174
ear12 / 16212740
embryonic tissue31 / 215722143
esophagus1 / 2020949
eye35 / 211054165
heart9 / 89626100
intestine61 / 234472260
kidney30 / 211777141
larynx0 / 241450 
liver37 / 207743178
lung76 / 336974225
lymph9 / 44270203
lymph node16 / 91610174
mammary gland51 / 153271332
mouth7 / 67052104
muscle16 / 107715148
nerve5 / 15768317
ovary23 / 102051225
pancreas51 / 214812237
parathyroid7 / 20539340
pharynx6 / 41328145
pituitary gland0 / 165850 
placenta41 / 280825145
prostate40 / 189345211
salivary gland9 / 20155446
skin87 / 210574413
spleen8 / 53952148
stomach20 / 96619206
testis37 / 330442111
thymus13 / 81131160
thyroid18 / 47473379
tonsil8 / 16999470
trachea2 / 5241338
umbilical cord4 / 13680292
uterus35 / 232878150
vascular15 / 51780289
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208743_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts353.85
Adipocyte149.85
AdrenalCortex35.75
Adrenalgland37.3
Amygdala758.65
Appendix20.9
AtrioventricularNode30.5
BDCA4+_DentriticCells285.7
Bonemarrow61
BronchialEpithelialCells216.05
CD105+_Endothelial101.9
CD14+_Monocytes394.65
CD19+_BCells(neg._sel.)309.25
CD33+_Myeloid434.45
CD34+245.35
CD4+_Tcells307.4
CD56+_NKCells338.95
CD71+_EarlyErythroid29.55
CD8+_Tcells276
CardiacMyocytes248.95
Caudatenucleus33.7
Cerebellum46.9
CerebellumPeduncles111.7
CiliaryGanglion20.15
CingulateCortex352.75
Colorectaladenocarcinoma421.15
DorsalRootGanglion30.6
FetalThyroid37.2
Fetalbrain68.15
Fetalliver30.95
Fetallung21.4
GlobusPallidus105.95
Heart40.8
Hypothalamus228.25
Kidney31.2
Leukemia_chronicMyelogenousK-56231.1
Leukemia_promyelocytic-HL-6040.95
Leukemialymphoblastic(MOLT-4)68.95
Liver62.6
Lung163.85
Lymphnode35.9
Lymphoma_burkitts(Daudi)98.7
Lymphoma_burkitts(Raji)102.9
MedullaOblongata147.45
OccipitalLobe396.65
OlfactoryBulb33.35
Ovary24
Pancreas76.5
PancreaticIslet71.05
ParietalLobe175.9
Pituitary30.5
Placenta165.65
Pons85.85
PrefrontalCortex620.5
Prostate231
Salivarygland28.3
SkeletalMuscle29.2
Skin31.4
SmoothMuscle277.25
Spinalcord15.4
SubthalamicNucleus120.35
SuperiorCervicalGanglion40.15
TemporalLobe68.55
Testis30.15
TestisGermCell77.15
TestisIntersitial37.6
TestisLeydigCell23.35
TestisSeminiferousTubule22.2
Thalamus119.65
Thymus137.5
Thyroid216.4
Tongue48.05
Tonsil87
Trachea39.25
TrigeminalGanglion22.6
Uterus132.85
UterusCorpus14.7
WholeBlood320.25
Wholebrain346.55
colon287.55
pineal_day335.72
pineal_night261.7
retina166.025
small_intestine223.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P500251
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala13.02 ± 0.43
Basal Forebrain12.73 ± 0.34
Basal Part of Pons13.53 ± 0.17
Cerebellar Cortex12.98 ± 0.17
Cerebellar Nuclei12.76 ± 0.41
Claustrum13.29 ± 0.25
Epithalamus12.62 ± 0.43
Frontal Lobe13.32 ± 0.28
Globus Pallidus12.02 ± 0.48
Hypothalamus13.13 ± 0.28
Insula13.32 ± 0.18
Limbic Lobe13.27 ± 0.52
Mesencephalon12.89 ± 0.37
Myelencephalon13 ± 0.5
Occipital Lobe12.73 ± 0.54
Parietal Lobe13.11 ± 0.43
Pontine Tegmentum13.01 ± 0.36
Striatum12.59 ± 0.58
Subthalamus13.12 ± 0.28
Temporal Lobe13.27 ± 0.35
Thalamus13.09 ± 0.3
White Matter12.21 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
YwhabCBCerebellum60.45
79.9
YwhabCTXCerebral cortex100
100
YwhabHIPHippocampal region86.42
100
YwhabHPFHippocampal formation100
100
YwhabHYHypothalamus88.4
91.37
YwhabLSXLateral septal complex73.14
70.09
YwhabMBMidbrain88.77
98.01
YwhabMYMedulla97.92
100
YwhabOLFOlfactory bulb100
100
YwhabPPons98.08
100
YwhabPALPallidum81.66
90.28
YwhabRHPRetrohippocampal region100
100
YwhabsAMYStriatum-like amygdalar nuclei93.42
88.26
YwhabSTRStriatum84.77
80.43
YwhabSTRdStriatum dorsal region79.04
68.93
YwhabSTRvStriatum ventral region100
93.11
YwhabTHThalamus94.94
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
1433B_HUMAN_0 0 0 0 AVTEQGHELSNEER PRIDE
1433B_HUMAN_0 0 0 0 DSTLIMQLLR PRIDE
1433B_HUMAN_0 0 0 0 LAEQAERYDDMAAAMK PRIDE
1433B_HUMAN_0 0 0 0 QTTVSNSQQAYQEAFEISKK PRIDE
1433B_HUMAN_0 0 0 0 TAFDEAIAELDTLNEESYK PRIDE
1433B_HUMAN_0 0 0 0 YLIPNATQPESK PRIDE
1433B_HUMAN_0 0 0 0 YLSEVASGDNK PRIDE
1433B_HUMAN_1 19 1 19 TMDKSELVQKAKLAEQAER PRIDE
1433B_HUMAN_1 20 1 20 MTMDKSELVQKAKLAEQAER PRIDE
1433B_HUMAN_105 12 105 116 YLIPNATQPESK PRIDE
1433B_HUMAN_11 18 11 28 AKLAEQAERYDDMAAAMK PRIDE
1433B_HUMAN_129 11 129 139 YLSEVASGDNK PRIDE
1433B_HUMAN_13 16 13 28 LAEQAERYDDMAAAMK PRIDE
1433B_HUMAN_140 19 140 158 QTTVSNSQQAYQEAFEISK PRIDE
1433B_HUMAN_140 20 140 159 QTTVSNSQQAYQEAFEISKK PRIDE
1433B_HUMAN_160 9 160 168 EMQPTHPIR PRIDE
1433B_HUMAN_195 19 195 213 TAFDEAIAELDTLNEESYK PRIDE
1433B_HUMAN_2 19 2 20 TMDKSELVQKAKLAEQAER PRIDE
1433B_HUMAN_20 9 20 28 YDDMAAAMK PRIDE
1433B_HUMAN_214 10 214 223 DSTLIMQLLR PRIDE
1433B_HUMAN_29 14 29 42 AVTEQGHELSNEER PRIDE
1433B_HUMAN_29 22 29 50 AVTEQGHELSNEERNLLSVAYK PRIDE
1433B_HUMAN_29 28 29 56 AVTEQGHELSNEERNLLSVAYKNVVGAR PRIDE
1433B_HUMAN_43 14 43 56 NLLSVAYKNVVGAR PRIDE
1433B_HUMAN_43 8 43 50 NLLSVAYK PRIDE
1433B_HUMAN_44 13 44 56 LLSVAYKNVVGAR PRIDE
1433B_HUMAN_5 15 5 19 SELVQKAKLAEQAER PRIDE
1433B_HUMAN_62 11 62 72 VISSIEQKTER PRIDE
1433B_HUMAN_62 14 62 75 VISSIEQKTERNEK PRIDE
1433B_HUMAN_62 8 62 69 VISSIEQK PRIDE
1433B_HUMAN_85 20 85 104 EKIEAELQDICNDVLELLDK PRIDE
1433B_HUMAN_85 32 85 116 EKIEAELQDICNDVLELLDKYLIPNATQPESK PRIDE
1433B_HUMAN_87 18 87 104 IEAELQDICNDVLELLDK PRIDE
PAp00003753 18 88 105 IEAELQDICNDVLELLDK Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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